Bresin E - Search Results

1

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A. Pescucci C, et al. Among authors: bresin e. Kidney Int. 2004 May;65(5):1598-603. doi: 10.1111/j.1523-1755.2004.00560.x. Kidney Int. 2004. PMID: 15086897 Free article.

2

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.

Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: bresin e. Hum Mol Genet. 1995 Aug;4(8):1331-5. doi: 10.1093/hmg/4.8.1331. Hum Mol Genet. 1995. PMID: 7581371

3

A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1).

Bresin E, Rossetti S, Englisch S, Corrà S, Pignatti PF, Turco AE. Bresin E, et al. Mol Cell Probes. 1996 Dec;10(6):463-5. doi: 10.1006/mcpr.1996.0063. Mol Cell Probes. 1996. PMID: 9025084

4

Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome.

Turco AE, Bresin E, Rossetti S, Peterlin B, Morandi R, Pignatti PF. Turco AE, et al. Among authors: bresin e. Am J Kidney Dis. 1997 Aug;30(2):174-9. doi: 10.1016/s0272-6386(97)90050-0. Am J Kidney Dis. 1997. PMID: 9261027

5

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I. Longo I, et al. Among authors: bresin e. Nephrol Dial Transplant. 2006 Mar;21(3):665-71. doi: 10.1093/ndt/gfi312. Epub 2005 Dec 7. Nephrol Dial Transplant. 2006. PMID: 16338941

6

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M. Castelletti F, et al. Among authors: bresin e. Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2538-43. doi: 10.1073/pnas.0707730105. Epub 2008 Feb 11. Proc Natl Acad Sci U S A. 2008. PMID: 18268355 Free PMC article.

7

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Fallerini C, et al. Among authors: bresin e. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287

8

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.

Rossetti S, Bresin E, Restagno G, Carbonara A, Corrà S, De Prisco O, Pignatti PF, Turco AE. Rossetti S, et al. Among authors: bresin e. Am J Med Genet. 1996 Oct 16;65(2):155-9. doi: 10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8911610

9

Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease.

Turco AE, Rossetti S, Bresin E, Corrà S, Restagno G, Carbonara A, De Prisco O, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: bresin e. Nephrol Dial Transplant. 1996;11 Suppl 6:10-2. doi: 10.1093/ndt/11.supp6.10. Nephrol Dial Transplant. 1996. PMID: 9044320

10

Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA).

Rossetti S, Englisch S, Bresin E, Pignatti PF, Turco AE. Rossetti S, et al. Among authors: bresin e. Mol Cell Probes. 1997 Apr;11(2):155-60. doi: 10.1006/mcpr.1996.0085. Mol Cell Probes. 1997. PMID: 9160331

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